 | This article may be confusing or unclear to readers. (October 2020) |
| TAR syndrome | |
|---|---|
| Other names | Thrombocytopenia with absent radius syndrome |
| Specialty | Medical genetics  |
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.[1] It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele.
- ^ Toriello HV (December 2016). "Thrombocytopenia Absent Radius Syndrome.". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Toriello HV (eds.). GeneReviews [Internet]. University of Washington, Seattle. PMID 20301781.